Treatment Options for Friedreich’s Ataxia

In February 2023, the Food and Drug Administration (FDA) approved the first medication prescribed specifically for the treatment of Friedreich’s ataxia. This medication, omaveloxolone (Skyclarys), works by counteracting the effects of Friedreich’s ataxia in nerve and muscle cells.

The approval of Skyclarys was based on the results from the MOXIe clinical trial.

In this study, 13 participants with Friedreich’s ataxia were randomly assigned to receive either omaveloxolone or a placebo control (no medication). Participants took their prescribed treatment daily for 48 weeks, and the effects of treatment were assessed every 4 weeks.

Treatment effects were evaluated using a symptom-based scale that measured:

• bulbar function (speech and swallowing capability)
• arm coordination
• leg coordination
• stability when upright

Scores using this scale range from 0 to 99, with lower numbers indicating better neuromuscular function.

After 48 weeks of treatment, people who had taken the placebo control had an average change in score of 0.85 points from the start of treatment. People who took omaveloxolone, on the other hand, had an average change of -1.55 points, which indicates an improvement in symptoms.

The improvements were maintained for at least 72 weeks (24 additional weeks) in an extension of the MOXIe study.

Skyclarys is taken as an oral medication once a day without food.

The goal of physical therapy for Friedreich’s ataxia is to strengthen muscles and improve and maintain posture. This can help delay the worsening of symptoms and maintain functionality and independence for longer.

Physical therapy can also help to manage some of the symptoms caused by scoliosis, which is a common problem in people with Friedreich’s ataxia.

Friedreich’s ataxia physical therapy regimens consist of low intensity strength exercises that are meant to support:

• coordination
• balance
• stabilization

The goal of occupational therapy for Friedreich’s ataxia is to promote behaviors and movements to avoid injury and maintain independence. Mobility aids, such as walking aids or wheelchairs, may be provided when needed.

Both physical and occupational therapists may also be able to provide additional support to help prevent or manage swallowing problems, which can lead to serious complications in Friedreich’s ataxia.

Orthopedic support

If orthopedic problems such as scoliosis or foot abnormalities affect mobility and cannot be managed with physical therapy, additional treatment — including braces, orthopedic shoes, and surgery — may be needed.

Decisions related to surgery should be made in partnership with a neurologist as well as an orthopedic surgeon.

Nearly everyone with Friedreich’s ataxia develops speech problems over the course of the disease. This can affect communication and understanding and may negatively affect a person’s mental well-being.

Speech therapy may be recommended to help preserve communication skills as long as possible and delay the development of speech problems.

Heart problems are common in people with Friedreich’s ataxia. Approximately two-thirds of people develop evidence of a form of heart disease known as cardiomyopathy, which happens when the walls of the heart become enlarged.

This type of cardiomyopathy is the leading cause of death in people with Friedreich’s ataxia and is linked with poor prognosis.

Management of heart health to prevent complications from heart disease in Friedreich’s ataxia may involve a number of treatment options, including:

• medications, to improve heart rhythm and prevent heart failure
• dietary changes
• surgical placement of an implantable cardioverter-defibrillator (ICD)
• heart transplant (in rare cases)

In addition to a regular primary care physician, serious heart concerns may be managed by a cardiologist.

Everyone experiences Friedreich’s ataxia differently, and treatment should be based on the individual symptoms each person has. This may include treatment of additional symptoms such as:

• diabetes
• vision or hearing problems
• pain
• fatigue

People who develop diabetes may be treated with diabetes-friendly diet plans as well as medications that manage glucose levels. A primary care physician may be able to help manage diabetes, or a diabetes specialist may be brought on to the multidisciplinary team.

Friedreich’s ataxia affects many aspects of a person’s physical well-being, which can lead to emotional distress. Research has found that depression is common among people with Friedreich’s ataxia and may negatively affect overall quality of life.

Additionally, a 2018 study found that neuropsychological effects — as well as other factors — may lead to diminished emotion recognition in people with Friedreich’s ataxia, which may negatively affect social interactions and personal emotional well-being.

People with Friedreich’s ataxia may benefit from dedicated time spent caring for their mental and emotional health. A primary care physician may be able to provide recommendations for a mental health specialist who focus on individuals with chronic diseases.

Additional support, including support for loved ones, is also available for many professional organizations and patient support groups.

Friedreich’s ataxia remains an incurable disease, but treatment options are improving. Physical, occupational, and speech therapy can help people adapt to living with their condition and help maintain functionality and independence.

Medications are also available to help manage many serious complications from Friedreich’s ataxia, including heart problems, diabetes, and pain.

The approval of Skyclarys marks the first treatment options available to help prevent and potential reverse neurodegeneration in Friedreich’s ataxia. If you’re interested in learning more about this medication, your neurologist can help you decide if this medication is right for you or your loved one.